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Journal Abstract Search

235 related items for PubMed ID: 2424647

  • 1. The spectrum of clinical features in CHARGE syndrome.
    Davenport SL, Hefner MA, Mitchell JA.
    Clin Genet; 1986 Apr; 29(4):298-310. PubMed ID: 2424647
    [Abstract] [Full Text] [Related]

  • 2.
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  • 3. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
    Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE.
    Pediatrics; 2009 May; 123(5):e871-7. PubMed ID: 19403480
    [Abstract] [Full Text] [Related]

  • 4. [The CHARGE association].
    Finel E, Parent P, Giroux JD, de Parscau L.
    Arch Pediatr; 1996 Oct; 3(10):1020-5. PubMed ID: 8952799
    [Abstract] [Full Text] [Related]

  • 5. [Molecular diagnosis of CHARGE syndrom].
    Pedersen AM, Skovby F.
    Ugeskr Laeger; 2007 Jan 29; 169(5):402-6. PubMed ID: 17280632
    [Abstract] [Full Text] [Related]

  • 6. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
    Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
    J Med Genet; 2006 Apr 29; 43(4):306-14. PubMed ID: 16155193
    [Abstract] [Full Text] [Related]

  • 7. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
    Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K.
    J Pediatr; 2006 Mar 29; 148(3):410-4. PubMed ID: 16615981
    [Abstract] [Full Text] [Related]

  • 8. Airway complications in CHARGE association.
    Asher BF, McGill TJ, Kaplan L, Friedman EM, Healy GB.
    Arch Otolaryngol Head Neck Surg; 1990 May 29; 116(5):594-5. PubMed ID: 1691649
    [Abstract] [Full Text] [Related]

  • 9. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.
    Pagon RA, Graham JM, Zonana J, Yong SL.
    J Pediatr; 1981 Aug 29; 99(2):223-7. PubMed ID: 6166737
    [Abstract] [Full Text] [Related]

  • 10. Trisomy 18 in a patient with CHARGE association.
    Lee WT, Hou JW, Yau KI, Wang TR.
    J Formos Med Assoc; 1995 Aug 29; 94(1-2):60-2. PubMed ID: 7613237
    [Abstract] [Full Text] [Related]

  • 11. [The CHARGE syndrome].
    Klingenberg C, Andersen WH.
    Tidsskr Nor Laegeforen; 2008 Jun 12; 128(12):1401-5. PubMed ID: 18552902
    [Abstract] [Full Text] [Related]

  • 12. Clinical characteristics of CHARGE syndrome.
    Ahn BS, Oh SY.
    Korean J Ophthalmol; 1998 Dec 12; 12(2):130-4. PubMed ID: 10188375
    [Abstract] [Full Text] [Related]

  • 13. ["CHARGE" association].
    Barak A, Gabis L, Mogilner B, Gelman-Kohan S.
    Harefuah; 1997 Feb 16; 132(4):254-8, 311. PubMed ID: 9153893
    [Abstract] [Full Text] [Related]

  • 14. A CGH study of 27 patients with CHARGE association.
    Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M.
    Clin Genet; 2002 Feb 16; 61(2):135-8. PubMed ID: 11940088
    [Abstract] [Full Text] [Related]

  • 15. Radial aplasia in CHARGE syndrome: a new association.
    Wright EM, O'Connor R, Kerr BA.
    Eur J Med Genet; 2009 Feb 16; 52(4):239-41. PubMed ID: 19375527
    [Abstract] [Full Text] [Related]

  • 16. New dysmorphic syndrome with choanal atresia in siblings.
    Burn J, McKeown C, Wagget J, Bray R, Goodship J.
    Clin Dysmorphol; 1992 Jul 16; 1(3):137-44. PubMed ID: 1342861
    [Abstract] [Full Text] [Related]

  • 17. Exclusion of PITX2 mutations as a major cause of CHARGE association.
    Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA.
    Am J Med Genet; 2002 Jul 22; 111(1):27-30. PubMed ID: 12124729
    [Abstract] [Full Text] [Related]

  • 18. Choanal atresia and associated anomalies: the CHARGE association.
    Duncan NO, Miller RH, Catlin FI.
    Int J Pediatr Otorhinolaryngol; 1988 May 22; 15(2):129-35. PubMed ID: 3397231
    [Abstract] [Full Text] [Related]

  • 19. Clinical characteristics of CHARGE syndrome.
    Hsueh KF, Yang CS, Lu JH, Hsu WM.
    J Chin Med Assoc; 2004 Oct 22; 67(10):542-6. PubMed ID: 15648291
    [Abstract] [Full Text] [Related]

  • 20. Early prognostic factors for intellectual outcome in CHARGE syndrome.
    Raqbi F, Le Bihan C, Morisseau-Durand MP, Dureau P, Lyonnet S, Abadie V.
    Dev Med Child Neurol; 2003 Jul 22; 45(7):483-8. PubMed ID: 12828403
    [Abstract] [Full Text] [Related]

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